Luk HM - Search Results

1

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.

Luk HM, Ivan Lo FM, Sano S, Matsubara K, Nakamura A, Ogata T, Kagami M. Luk HM, et al. Am J Med Genet A. 2016 Jul;170(7):1938-41. doi: 10.1002/ajmg.a.37679. Epub 2016 May 6. Am J Med Genet A. 2016. PMID: 27150791 Free PMC article. No abstract available.

2

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

Edwards JJ, Martinelli S, Pannone L, Lo IF, Shi L, Edelmann L, Tartaglia M, Luk HM, Gelb BD. Edwards JJ, et al. Among authors: luk hm. Am J Med Genet A. 2014 Sep;164A(9):2351-5. doi: 10.1002/ajmg.a.36620. Epub 2014 May 28. Am J Med Genet A. 2014. PMID: 24891296 Free PMC article.

3

Temple syndrome misdiagnosed as Silver-Russell syndrome.

Luk HM. Luk HM. Clin Dysmorphol. 2016 Apr;25(2):82-3. doi: 10.1097/MCD.0000000000000114. Clin Dysmorphol. 2016. PMID: 26862943 No abstract available.

4

Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings.

Luk HM, Tang T, Choy KW, Tong MF, Wong OK, Lo FM. Luk HM, et al. Am J Med Genet A. 2016 Jul;170(7):1942-4. doi: 10.1002/ajmg.a.37660. Epub 2016 Apr 25. Am J Med Genet A. 2016. PMID: 27109257 No abstract available.

5

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

McDonell LM, Leung GK, Daoud H, Ip J, Chim S, Luk HM, Lan L; Care4Rare Canada Consortium; Boycott KM, Chung BH. McDonell LM, et al. Among authors: luk hm. Am J Med Genet A. 2018 Nov;176(11):2523-2527. doi: 10.1002/ajmg.a.40349. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289595 No abstract available.

6

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Yu KPT, Luk HM, Leung GKC, Mak CCY, Cheng SSW, Hau EWL, Chan DKH, Lam STS, Tong TMF, Chung BHY, Lo IFM. Yu KPT, et al. Among authors: luk hm. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):208-217. doi: 10.1002/ajmg.c.31692. Epub 2019 Mar 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 30896080

7

Coffin-Lowry syndrome in Chinese.

Fung JLF, Rethanavelu K, Luk HM, Ho MSP, Lo IFM, Chung BHY. Fung JLF, et al. Among authors: luk hm. Am J Med Genet A. 2019 Oct;179(10):2043-2048. doi: 10.1002/ajmg.a.61323. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400053

8

CHARGE syndrome in nine patients from China.

Cheng SSW, Luk HM, Chan DKH, Lo IFM. Cheng SSW, et al. Among authors: luk hm. Am J Med Genet A. 2020 Jan;182(1):15-19. doi: 10.1002/ajmg.a.61398. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729160

9

Mowat-Wilson syndrome in a Chinese population: A case series.

Ho S, Luk HM, Chung BH, Fung JL, Mak HH, Lo IFM. Ho S, et al. Among authors: luk hm. Am J Med Genet A. 2020 Jun;182(6):1336-1341. doi: 10.1002/ajmg.a.61557. Epub 2020 Mar 20. Am J Med Genet A. 2020. PMID: 32196960

10

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.

Yu PT, Luk HM, Lo IFM. Yu PT, et al. Among authors: luk hm. Am J Med Genet A. 2021 Jan;185(1):267-273. doi: 10.1002/ajmg.a.61922. Epub 2020 Oct 16. Am J Med Genet A. 2021. PMID: 33063428

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